Variant report

Variant	rs301917
Chromosome Location	chr5:37037344-37037345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13176880	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs150380	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs151944	0.87[EUR][1000 genomes]
rs158622	0.91[EUR][1000 genomes]
rs158623	0.90[EUR][1000 genomes]
rs158624	0.83[EUR][1000 genomes]
rs158791	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs158796	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs158803	0.91[EUR][1000 genomes]
rs159749	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs159751	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs159753	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs159755	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs159913	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs168662	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs184182	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs186173	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs188541	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs292182	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs292183	0.87[EUR][1000 genomes]
rs292184	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs292194	0.90[EUR][1000 genomes]
rs292195	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs296962	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs300046	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs300049	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs300051	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs300053	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs300055	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs300058	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs300060	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs300061	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs300063	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs300064	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs300065	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs301859	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs301901	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3104057	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs388098	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6875748	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv1030883	chr5:36932448-37039857	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
9	esv1803659	chr5:36935129-37039857	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
10	nsv1033928	chr5:36947293-37039857	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv597822	chr5:36997953-37147152	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	esv1803948	chr5:37016522-37047066	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:36969800-37065000	Weak transcription	Stomach Mucosa	stomach
3	chr5:36979800-37057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:36991000-37064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:36997600-37064600	Weak transcription	Esophagus	oesophagus
6	chr5:37001200-37066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:37005200-37041800	Weak transcription	Lung	lung
8	chr5:37009200-37049200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:37010200-37043600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:37010800-37064600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:37011000-37054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:37012400-37064600	Weak transcription	Gastric	stomach
13	chr5:37014200-37066200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:37014200-37067200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr5:37016800-37037600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:37017000-37041200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:37019200-37060000	Weak transcription	Psoas Muscle	Psoas
18	chr5:37022400-37063600	Weak transcription	NHEK	skin
19	chr5:37023800-37050600	Weak transcription	Fetal Heart	heart
20	chr5:37025400-37038600	Weak transcription	Colonic Mucosa	Colon
21	chr5:37026000-37042800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:37026800-37038400	Weak transcription	HUVEC	blood vessel
23	chr5:37026800-37038600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:37026800-37043800	Weak transcription	Fetal Brain Female	brain
25	chr5:37027000-37037600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr5:37027000-37048200	Weak transcription	HMEC	breast
27	chr5:37027000-37049000	Weak transcription	Pancreas	Pancrea
28	chr5:37027000-37066200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:37027200-37038000	Weak transcription	NHLF	lung
30	chr5:37027200-37045200	Weak transcription	Ovary	ovary
31	chr5:37027400-37037800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr5:37027600-37043200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:37027600-37045600	Weak transcription	HSMMtube	muscle
34	chr5:37027600-37060000	Weak transcription	Small Intestine	intestine
35	chr5:37027800-37039800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:37028000-37042400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:37028600-37049000	Weak transcription	Thymus	Thymus
38	chr5:37028800-37041400	Weak transcription	Fetal Stomach	stomach
39	chr5:37028800-37041600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:37028800-37042200	Weak transcription	Spleen	Spleen
41	chr5:37029200-37045600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:37029400-37037800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:37029400-37038200	Weak transcription	NH-A	brain
44	chr5:37029400-37043600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:37029400-37043800	Weak transcription	Fetal Kidney	kidney
46	chr5:37029400-37044000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:37029400-37045600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr5:37029600-37043800	Weak transcription	Brain Anterior Caudate	brain
49	chr5:37029800-37038200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:37029800-37038800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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